Linked Data
ClinVar Variation Id:
198260
dbSNP Id:
rs760537869
ExAC:
9:140638380 C / A
gnomAD v2:
9-140638380-C-A
gnomAD v3:
9-137743928-C-A
gnomAD v4:
9-137743928-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137743928C>A , CM000671.2:g.137743928C>A | GRCh38 |
| NC_000009.11:g.140638380C>A , CM000671.1:g.140638380C>A | GRCh37 |
| NC_000009.10:g.139758201C>A | NCBI36 |
| NG_011776.1:g.129937C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.1008C>A MANE Select | ENSP00000417980.1:p.Ser336Arg | |
| ENST00000629335.2:c.1008C>A | ENSP00000490056.1:p.Ser336Arg | |
| ENST00000636027.1:c.894C>A | ENSP00000489961.1:p.Ser298Arg | |
| ENST00000637161.1:c.915C>A | ENSP00000490328.1:p.Ser305Arg | |
| ENST00000637261.1:c.1048C>A | ENSP00000490815.1:n.1048C>A | |
| ENST00000637318.1:c.132C>A | ENSP00000490611.1:p.Ser44Arg | |
| ENST00000637977.1:c.953C>A | ||
| ENST00000638071.1:c.713C>A | ||
| ENST00000640639.1:c.177C>A | ENSP00000491823.1:p.Ser59Arg | |
| ENST00000371394.6:c.*743C>A | ENSP00000485945.1:n.*743C>A | |
| ENST00000460843.5:c.1008C>A | ENSP00000417980.1:p.Ser336Arg | |
| ENST00000462484.5:c.1008C>A | ENSP00000417328.1:p.Ser336Arg | |
| ENST00000478940.1:n.299C>A | ||
| ENST00000495657.5:n.358C>A | ||
| ENST00000626066.2:c.911C>A | ||
| ENST00000629808.2:c.179C>A | ||
| NM_001145527.1:c.1008C>A | NP_001138999.1:p.Ser336Arg | |
| NM_024757.4:c.1008C>A | NP_079033.4:p.Ser336Arg | |
| XM_005266105.3:c.999C>A | XP_005266162.1:p.Ser333Arg | |
| XM_005266110.1:c.915C>A | XP_005266167.1:p.Ser305Arg | |
| XM_006717288.2:c.990C>A | XP_006717351.1:p.Ser330Arg | |
| XM_011519021.1:c.1017C>A | XP_011517323.1:p.Ser339Arg | |
| XM_011519022.1:c.1014C>A | XP_011517324.1:p.Ser338Arg | |
| XM_011519023.1:c.996C>A | XP_011517325.1:p.Ser332Arg | |
| XM_011519024.1:c.1017C>A | XP_011517326.1:p.Ser339Arg | |
| XM_011519025.1:c.915C>A | XP_011517327.1:p.Ser305Arg | |
| XM_011519026.1:c.1017C>A | XP_011517328.1:p.Ser339Arg | |
| XM_011519027.1:c.1017C>A | XP_011517329.1:p.Ser339Arg | |
| XM_011519028.1:c.1017C>A | XP_011517330.1:p.Ser339Arg | |
| XM_011519033.1:c.996C>A | XP_011517335.1:p.Ser332Arg | |
| NM_001354259.1:c.915C>A | NP_001341188.1:p.Ser305Arg | |
| NM_001354263.1:c.987C>A | NP_001341192.1:p.Ser329Arg | |
| NM_001354611.1:c.1008C>A | NP_001341540.1:p.Ser336Arg | |
| NM_001354612.1:c.915C>A | NP_001341541.1:p.Ser305Arg | |
| XM_005266105.5:c.999C>A | XP_005266162.1:p.Ser333Arg | |
| XM_011519021.3:c.1017C>A | XP_011517323.1:p.Ser339Arg | |
| XM_011519022.3:c.1014C>A | XP_011517324.1:p.Ser338Arg | |
| XM_011519023.3:c.996C>A | XP_011517325.1:p.Ser332Arg | |
| XM_017015134.1:c.993C>A | XP_016870623.1:p.Ser331Arg | |
| XM_017015136.2:c.987C>A | XP_016870625.1:p.Ser329Arg | |
| XM_017015137.1:c.894C>A | XP_016870626.1:p.Ser298Arg | |
| XM_017015138.1:c.894C>A | XP_016870627.1:p.Ser298Arg | |
| XM_024447674.1:c.915C>A | XP_024303442.1:p.Ser305Arg | |
| XM_024447675.1:c.915C>A | XP_024303443.1:p.Ser305Arg | |
| XM_024447676.1:c.132C>A | XP_024303444.1:p.Ser44Arg | |
| XM_024447677.1:c.132C>A | XP_024303445.1:p.Ser44Arg | |
| XM_024447678.1:c.915C>A | XP_024303446.1:p.Ser305Arg | |
| XM_024447679.1:c.915C>A | XP_024303447.1:p.Ser305Arg | |
| XM_024447680.1:c.894C>A | XP_024303448.1:p.Ser298Arg | |
| NM_024757.5:c.1008C>A MANE Select | NP_079033.4:p.Ser336Arg | |
| NM_001145527.2:c.1008C>A | NP_001138999.1:p.Ser336Arg | |
| NM_001354259.2:c.915C>A | NP_001341188.1:p.Ser305Arg | |
| NM_001354263.2:c.987C>A | NP_001341192.1:p.Ser329Arg | |
| NM_001354611.2:c.1008C>A | NP_001341540.1:p.Ser336Arg | |
| NM_001354612.2:c.915C>A | NP_001341541.1:p.Ser305Arg |